R29C (p.Arg29Cys) variant of MSH6 (DNA mismatch repair protein Msh6)
R29C (p.Arg29Cys) in MSH6 (DNA mismatch repair protein Msh6) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes published literature and structural context.
R29C (p.Arg29Cys) variant details
- p.Arg29Cys
- rs756589186
- ClinGen CA346734808
- ClinVar RCV000568043
- ClinVar RCV000796511
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Lynch Syndrome. (PMID 20301390)